Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338682
rs80338682
3 0.925 0.080 17 17216395 frameshift variant G/-;GG delins 0.700 1.000 7 2002 2015
dbSNP: rs1064793128
rs1064793128
2 1.000 0.080 17 17215237 frameshift variant GA/- delins 0.700 1.000 6 2005 2017
dbSNP: rs398124530
rs398124530
1 1.000 0.080 17 17214990 stop gained C/T snv 0.700 1.000 6 2005 2015
dbSNP: rs767671406
rs767671406
2 1.000 0.080 17 17216506 splice region variant GGA/- delins 0.700 1.000 6 2010 2017
dbSNP: rs398124532
rs398124532
1 1.000 0.080 17 17213798 stop gained G/A;C snv 0.700 1.000 5 2006 2012
dbSNP: rs879255678
rs879255678
6 0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06 0.700 1.000 5 2005 2017
dbSNP: rs879255679
rs879255679
1 1.000 0.080 17 17215032 frameshift variant -/ACAG delins 0.700 1.000 5 2005 2015
dbSNP: rs879255683
rs879255683
1 1.000 0.080 17 17213816 stop gained G/A snv 1.4E-05 0.700 1.000 5 2005 2015
dbSNP: rs137852929
rs137852929
3 0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05 0.700 1.000 3 2002 2008
dbSNP: rs199643834
rs199643834
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.710 1.000 3 2013 2017
dbSNP: rs755959303
rs755959303
2 1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs1555607273
rs1555607273
1 1.000 0.080 17 17215299 frameshift variant C/- delins 0.700 1.000 2 2014 2018
dbSNP: rs398124529
rs398124529
1 1.000 0.080 17 17214999 inframe deletion CTT/- del 4.0E-06 7.0E-06 0.700 1.000 2 2011 2013
dbSNP: rs864622651
rs864622651
2 1.000 0.080 17 17216428 frameshift variant G/- delins 0.700 1.000 2 2008 2014
dbSNP: rs879255677
rs879255677
2 1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins 0.700 1.000 2 2008 2010
dbSNP: rs398124524
rs398124524
2 1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs398124528
rs398124528
2 1.000 0.080 17 17215092 splice acceptor variant T/C;G snv 0.700 1.000 1 2005 2005
dbSNP: rs878855213
rs878855213
1 1.000 0.080 17 17216461 frameshift variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs1131690837
rs1131690837
2 1.000 0.080 17 17216466 frameshift variant -/A delins 0.700 0
dbSNP: rs1266098984
rs1266098984
1 1.000 0.080 17 17216380 stop gained C/A;G snv 4.0E-06 0.700 0
dbSNP: rs1555607179
rs1555607179
1 1.000 0.080 17 17215243 frameshift variant TGGTCATCCTCACACCC/- delins 0.700 0
dbSNP: rs1555607212
rs1555607212
1 1.000 0.080 17 17215258 frameshift variant C/- delins 0.700 0
dbSNP: rs1567807238
rs1567807238
1 1.000 0.080 17 17215072 frameshift variant T/- delins 0.700 0
dbSNP: rs398124525
rs398124525
2 1.000 0.080 17 17216501 frameshift variant G/- delins 0.700 0
dbSNP: rs398124526
rs398124526
1 1.000 0.080 17 17216476 frameshift variant -/G delins 4.0E-06 0.700 0